Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... |
OMIM:614470 |
Immunodeficiency, Common Variable, 11 |
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Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... |
OMIM:615767 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence o... |
ORPHA:277 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... |
ORPHA:397596 |
Schnitzler Syndrome |
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Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... |
ORPHA:37748 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... |
OMIM:619281 |
Immunodeficiency 27A |
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Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... |
OMIM:209950 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Autoimmunity, ... |
OMIM:609529 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... |
OMIM:617638 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... |
OMIM:618048 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin lev... |
ORPHA:98813 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... |
OMIM:618495 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Chronic diarrhea, Bro... |
OMIM:618394 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... |
OMIM:613496 |
Immunodeficiency 15B |
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Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Immunodeficiency 95 |
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Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Boutonneuse Fever |
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Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical ... |
ORPHA:83313 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leuk... |
OMIM:616005 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Thoracic aortic aneurysm, Autoimmunity, ... |
ORPHA:449400 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
Autoimmune Hepatitis |
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Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... |
ORPHA:2137 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Adult Idiopathic Neutropenia |
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Helicobacter pylori infection, Abnormal neutrophil count, Increased circulating IgM level, Monocy... |
ORPHA:2688 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha... |
OMIM:605258 |
Kimura Disease |
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Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Increased ... |
OMIM:615934 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 37 |
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Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
Systemic Lupus Erythematosus 16 |
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Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Agammaglobulinemia 6, Autosomal Recessive |
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Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Complement Component 3 Deficiency, Autosomal Recessive |
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Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... |
OMIM:613779 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Pgm3-Cdg |
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Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... |
OMIM:608106 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... |
OMIM:617765 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... |
ORPHA:91139 |
Masp2 Deficiency |
|
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia |
OMIM:603278 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ... |
ORPHA:567544 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... |
OMIM:243700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... |
OMIM:617099 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Lymphopenia, Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Decreased c... |
OMIM:619510 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Q Fever |
|
Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy... |
ORPHA:781 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin... |
ORPHA:1572 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Macroglossia, R... |
OMIM:618523 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... |
OMIM:615285 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eosinophi... |
OMIM:615816 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit... |
OMIM:616100 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... |
OMIM:147060 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... |
OMIM:616744 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... |
ORPHA:37042 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hem... |
ORPHA:2070 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... |
OMIM:615688 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... |
OMIM:616871 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra... |
OMIM:613759 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Splenom... |
OMIM:620210 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... |
OMIM:618282 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa... |
OMIM:269840 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminem... |
OMIM:618805 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abn... |
ORPHA:33226 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Autoimmunity, Leukocytosis, Increased circulating IgE ... |
ORPHA:2902 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Thymoma |
|
Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte p... |
ORPHA:99867 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis, Abdomin... |
OMIM:616395 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618261 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ... |
ORPHA:91138 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... |
ORPHA:182050 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocarditis, Hepat... |
ORPHA:292 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... |
ORPHA:83617 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Congestive h... |
OMIM:617303 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal... |
ORPHA:449432 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... |
ORPHA:449395 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... |
OMIM:619858 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... |
ORPHA:99931 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... |
OMIM:613011 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Increase... |
ORPHA:1163 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, Increased circulating IgM... |
OMIM:242860 |
Netherton Syndrome |
|
Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE ... |
OMIM:256500 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Increased circulating IgG level, ... |
ORPHA:1304 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti... |
ORPHA:186 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Splenome... |
ORPHA:824 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... |
OMIM:226300 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Complement Component 4A Deficiency |
|
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... |
OMIM:614380 |
Immunoglobulin A Deficiency 1 |
|
Malabsorption, Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circula... |
OMIM:137100 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Diarrhea, Protracted diarrhea, Decreased c... |
OMIM:615758 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia |
ORPHA:57 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... |
OMIM:615190 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension |
OMIM:616069 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Cachexia... |
ORPHA:77297 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption |
OMIM:152800 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e... |
ORPHA:411593 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Gastrointestinal inflammation, Unusual gastrointestinal infection, Ba... |
ORPHA:48435 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi... |
ORPHA:1667 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... |
ORPHA:79087 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... |
OMIM:613179 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Nephritis, En... |
ORPHA:2298 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Hypoalbuminemia... |
OMIM:608104 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... |
ORPHA:289390 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R... |
ORPHA:275 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukope... |
ORPHA:33355 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy, Neutropen... |
ORPHA:79312 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... |
ORPHA:79078 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Diarrhea 13 |
|
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... |
OMIM:251880 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Irritability, Neoplasm of the liver, Hypertension, Intern... |
ORPHA:69077 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Cerebral ischemia, Conjunctivitis |
ORPHA:26137 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... |
ORPHA:90060 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper... |
OMIM:182410 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei... |
ORPHA:2494 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, S... |
ORPHA:84064 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi... |
OMIM:170100 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... |
ORPHA:448237 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:470 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... |
OMIM:301045 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art... |
ORPHA:575 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased serum creati... |
ORPHA:54057 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... |
OMIM:604416 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circulating IgE level, Cleft palate, Ch... |
ORPHA:2314 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ... |
OMIM:222470 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level |
OMIM:612126 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:608709 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,... |
ORPHA:375 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Antineutrophil antibody positivity, Pneumo... |
ORPHA:486 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Abnormal circulating glutamine concentratio... |
ORPHA:101028 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia |
OMIM:615010 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Skin ... |
ORPHA:36412 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... |
ORPHA:284227 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... |
ORPHA:536 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... |
OMIM:616433 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, A... |
OMIM:614034 |
Lead Poisoning |
|
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Chronic kidney disea... |
ORPHA:330015 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,... |
ORPHA:449563 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... |
ORPHA:93552 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... |
ORPHA:275555 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... |
OMIM:301074 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictiv... |
ORPHA:67 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgitation, Patent duct... |
ORPHA:505248 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... |
OMIM:617718 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, N... |
OMIM:615952 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Blepharitis |
OMIM:614328 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr... |
ORPHA:85443 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... |
ORPHA:247353 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob... |
OMIM:300310 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... |
OMIM:215250 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial... |
ORPHA:3287 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Auto... |
ORPHA:47 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... |
OMIM:618852 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Cardiomyopathy, Pa... |
ORPHA:27 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... |
OMIM:256040 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Anorexia, Myocardial infarction, Splenomegaly, Jaundice, Congesti... |
ORPHA:108 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... |
ORPHA:99827 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... |
OMIM:225750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Anal fissure, ... |
OMIM:618935 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... |
OMIM:618886 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... |
OMIM:613913 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia |
ORPHA:289916 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Hepatosple... |
OMIM:619487 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Thrombocytopenia, Hyperkalemia, Intracranial hemorrhage, Leukopenia, ... |
OMIM:617053 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Proteinuria, Renal cy... |
OMIM:212065 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor |
OMIM:613561 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... |
ORPHA:3162 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm... |
ORPHA:99826 |
Lassa Fever |
|
Shock, Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:602347 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Per... |
ORPHA:36234 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... |
ORPHA:70578 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Netherton Syndrome |
|
Skin rash, Eczema, Malabsorption, Ectopic kidney, Increased circulating IgE level, Decreased circ... |
ORPHA:634 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter |
ORPHA:3409 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Retinal hemorrhage, U... |
ORPHA:319251 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... |
ORPHA:69126 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth... |
ORPHA:77259 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, De... |
ORPHA:381 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Orthost... |
ORPHA:199299 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp... |
OMIM:617591 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co... |
ORPHA:210136 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu... |
ORPHA:47612 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vasc... |
OMIM:216360 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Failure to thrive, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Paro... |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Autoimmunity, In... |
ORPHA:90363 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... |
OMIM:615387 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, D... |
OMIM:615895 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... |
ORPHA:49041 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased serum zinc... |
ORPHA:89842 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... |
ORPHA:449427 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, H... |
OMIM:616589 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Cog4-Cdg |
|
Hepatosplenomegaly, Irritability, Cirrhosis, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Patent ductus... |
OMIM:606003 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... |
OMIM:616740 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasculitis, Ly... |
ORPHA:50918 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepat... |
OMIM:613385 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Internal hemorrhage, Neutrophilia, Ele... |
ORPHA:99829 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Autoimmune antibody positivity, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... |
ORPHA:90159 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lymp... |
ORPHA:353298 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia |
OMIM:254900 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukop... |
OMIM:251000 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... |
OMIM:105200 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, ... |
OMIM:613989 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg... |
ORPHA:14 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis |
ORPHA:90026 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatospleno... |
ORPHA:367 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm... |
ORPHA:1855 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia... |
OMIM:606054 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Orthostatic ... |
ORPHA:95409 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Telangiectasia of the skin, Abnormal testis morphology, Decreased ... |
ORPHA:100 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Abnormal g... |
ORPHA:391673 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter |
OMIM:618347 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Immunodeficiency, Common Variable, 10 |
|
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... |
OMIM:615577 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestive heart failur... |
OMIM:602390 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Leukocytosis, Increased circulating IgG level, Increased circulati... |
ORPHA:297 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, In... |
ORPHA:90041 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... |
OMIM:185070 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... |
ORPHA:93126 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Leukop... |
ORPHA:206572 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... |
OMIM:232700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash... |
OMIM:619381 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... |
ORPHA:229717 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive |
OMIM:230350 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula... |
OMIM:605309 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Decreased circulating IgG2 level, Small for gestational age, Functional abnormali... |
OMIM:300076 |
Cronkhite-Canada Syndrome |
|
Anemia, Splenomegaly, Cachexia, Hepatomegaly |
ORPHA:2930 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Sudden cardiac death, Elevated circulating acylcarnitine concentration, ... |
ORPHA:99901 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... |
OMIM:616414 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... |
ORPHA:79319 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita... |
OMIM:619046 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... |
OMIM:619750 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... |
OMIM:618775 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ... |
OMIM:610600 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Attention deficit hypera... |
OMIM:619151 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Circulating immune complexes, Lymphad... |
ORPHA:2035 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ... |
ORPHA:342 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Myocardial infarction, Abn... |
ORPHA:732 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso... |
ORPHA:264580 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral r... |
OMIM:614576 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thromboc... |
ORPHA:98850 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612926 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... |
ORPHA:340 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Fasciitis, Myositis, Skin rash, Orchitis, Splenomegaly, Leu... |
ORPHA:32960 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... |
ORPHA:319218 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con... |
ORPHA:100924 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... |
OMIM:620321 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Immunodeficiency 17 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... |
OMIM:615607 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Sinusitis, Renal insufficiency, Autoim... |
ORPHA:727 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... |
ORPHA:567548 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Dark yellow urine, Atretic gallblad... |
ORPHA:30391 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Pulmonic stenosis, Increased mean platelet volume |
OMIM:616737 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia |
OMIM:231000 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... |
ORPHA:227982 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Orthostatic ... |
ORPHA:85138 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks |
OMIM:615139 |
Bloom Syndrome |
|
Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating IgG level, ... |
ORPHA:125 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Hypertension, Glycosuria, Anemia |
ORPHA:97362 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Enlarged kidney, H... |
OMIM:615415 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Autoimmunity, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosi... |
ORPHA:39041 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Internal h... |
ORPHA:49566 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612924 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia |
ORPHA:79327 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Hypoplasia of penis, High, narrow palate, Hepatoblasto... |
ORPHA:373 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... |
OMIM:612925 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th... |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypogly... |
OMIM:602579 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... |
ORPHA:90003 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly... |
OMIM:610377 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Thrombocytopenia, Dysphagia |
OMIM:619751 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... |
ORPHA:199296 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema, Porphyrinuria |
OMIM:176090 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Lymphadeno... |
ORPHA:101096 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cardiomyopathy... |
OMIM:249270 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Aredyld Syndrome |
|
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly |
ORPHA:1133 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... |
ORPHA:221139 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... |
ORPHA:171876 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c... |
ORPHA:79330 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody level, Intrahepatic biliary at... |
ORPHA:1296 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia, Attention deficit hyperactivity disorder |
OMIM:620184 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cardiomyopathy |
OMIM:232400 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Weight loss... |
ORPHA:3226 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Conjunctival telangiectasia, Sinusitis, Bronchiecta... |
OMIM:208900 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis |
OMIM:618624 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Elev... |
OMIM:274150 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251110 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,... |
ORPHA:900 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Cervical lymphadenopat... |
ORPHA:2331 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... |
OMIM:121300 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia |
OMIM:610883 |
Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Irritability, Hyperammonemia, Anorexia |
ORPHA:79242 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Panniculitis, Cystic a... |
OMIM:608068 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Myocar... |
ORPHA:3452 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites |
ORPHA:834 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... |
ORPHA:85450 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia |
OMIM:615750 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy |
OMIM:607685 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Mediastinal lympha... |
ORPHA:397 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Abnormal immunoglobuli... |
OMIM:242900 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria |
OMIM:245900 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves... |
OMIM:613070 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Anti-thyroid pe... |
OMIM:610199 |
Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Arteritis, Elevated circulating C-reactive protein concentra... |
OMIM:301054 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... |
ORPHA:391487 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Hepatitis, Bronchi... |
ORPHA:33110 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopeni... |
ORPHA:90051 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Portal fibrosis, Hepati... |
OMIM:619111 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, V... |
OMIM:212138 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hepatic fib... |
ORPHA:79322 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level, Vasculitis in the skin |
ORPHA:90000 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia |
ORPHA:290 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:177735 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... |
OMIM:224230 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... |
ORPHA:169105 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t... |
ORPHA:324964 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Gastroesophageal reflux, Dysphagia, Decreased circulating ... |
DECIPHER:45 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
ORPHA:2571 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Aicardi-Goutieres Syndrome 5 |
|
Irritability, Thrombocytopenia |
OMIM:612952 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Hematochezia, Melena, Intestinal bleeding, Hypoal... |
ORPHA:79076 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia, Death in childhood |
OMIM:246450 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... |
ORPHA:117 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... |
ORPHA:54251 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomega... |
ORPHA:42 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Hypertension, Polycystic ovaries |
ORPHA:280356 |
Japanese Encephalitis |
|
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level, Infectious e... |
ORPHA:79139 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, R... |
ORPHA:160 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, CNS foam cells, T... |
ORPHA:333 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... |
OMIM:615382 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase, Dysphagia |
OMIM:620265 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Jaundice, Hepatitis, Depression,... |
ORPHA:905 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c... |
OMIM:618156 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ... |
OMIM:617093 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Anemia |
ORPHA:298 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardi... |
OMIM:619048 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Paraproteinemia, Neuromuscular dysphagia, High palate |
ORPHA:171442 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity |
ORPHA:46488 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... |
ORPHA:447 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... |
OMIM:614376 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, D... |
OMIM:620040 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... |
ORPHA:466650 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, An... |
ORPHA:520 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal b... |
ORPHA:810 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unco... |
OMIM:613658 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Splenomegaly, Jaundice, Congestive heart failur... |
ORPHA:525731 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Nephr... |
OMIM:269920 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... |
OMIM:212350 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Episodic h... |
ORPHA:251004 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Incre... |
ORPHA:167 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Increased circulating IgG level, Tub... |
ORPHA:91500 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Hypotension |
OMIM:264350 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... |
ORPHA:88 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Hepatocellul... |
ORPHA:101330 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... |
OMIM:251100 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyper... |
OMIM:277380 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Aminoaciduria, Albuminuria, Galactosuria, Increased level of gala... |
OMIM:230400 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Increase... |
OMIM:619472 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Intestinal malrotation, Gastr... |
ORPHA:436252 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Anemia |
ORPHA:1192 |
Icf Syndrome |
|
Abnormality of neutrophils, Protruding tongue, Malabsorption, Decreased circulating antibody leve... |
ORPHA:2268 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Hypertensive crisis, Diabetes mellitus, Myocarditi... |
ORPHA:544482 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Pyoderma, Conju... |
OMIM:307200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Legionnaires Disease |
|
Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... |
ORPHA:549 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
Acute Lung Injury |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... |
ORPHA:178320 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Iron defic... |
OMIM:212750 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Central retinal artery occlusion,... |
ORPHA:863 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Cheilitis, ... |
ORPHA:90045 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ... |
ORPHA:33577 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Aminoaciduria, Hepatomegaly |
ORPHA:417 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy... |
ORPHA:514 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Hy... |
OMIM:619055 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Cachexia |
ORPHA:1933 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... |
OMIM:606056 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Epistaxis, Splenomegaly,... |
OMIM:612840 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Malar rash, Decreased circulating total ... |
OMIM:210900 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... |
ORPHA:494424 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor... |
ORPHA:30 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Ascites, Anemia |
ORPHA:79325 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Displaceme... |
ORPHA:2377 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepatic steatosis, Hyperal... |
OMIM:618329 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100083 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Cln3 Disease |
|
Aggressive behavior, Vacuolated lymphocytes, Depression, T-wave inversion, Bradycardia, Dysphagia... |
ORPHA:228346 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Erythroderma, Lymphopenia, Ana... |
OMIM:617425 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Renpenning Syndrome |
|
Hypospadias, Cachexia |
ORPHA:3242 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating a... |
ORPHA:77261 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... |
ORPHA:439232 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... |
ORPHA:1467 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume |
ORPHA:487796 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... |
OMIM:618183 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... |
OMIM:261515 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:242840 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... |
OMIM:608233 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Cardiomyopathy, Dysphagia, Thrombo... |
OMIM:222300 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ... |
OMIM:617156 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb... |
OMIM:214500 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Buerger Disease |
|
Vasculitis |
ORPHA:36258 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level |
ORPHA:99811 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276556 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Decreased c... |
ORPHA:79329 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric va... |
OMIM:613490 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Poems Syndrome |
|
Thrombocytosis, Lymphadenopathy, Increased circulating antibody level, Pulmonary arterial hyperte... |
ORPHA:2905 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac death, Cardiomegal... |
OMIM:201475 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage,... |
ORPHA:420741 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... |
OMIM:619386 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Hypertension, Agitation, Hype... |
ORPHA:134 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Hypoglycemia, Aggressive behavior, Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... |
OMIM:615438 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... |
OMIM:248500 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of... |
OMIM:260400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... |
ORPHA:85414 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia |
ORPHA:77260 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Irritability, Hyperammonemia |
OMIM:253270 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Fulminan... |
ORPHA:319213 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran... |
OMIM:257200 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Uveitis, Arth... |
ORPHA:90289 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia |
ORPHA:2668 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficienc... |
OMIM:602088 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hyperkalemia,... |
ORPHA:361 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias... |
OMIM:181000 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... |
OMIM:243910 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Bronchiectasis, Cachexia |
ORPHA:60033 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... |
OMIM:618165 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
Congenital Heart Block |
|
Intrauterine growth retardation, Patent ductus arteriosus, Pallor |
ORPHA:60041 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... |
OMIM:613404 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... |
ORPHA:230 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Anemia |
OMIM:618182 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardiomyopathy,... |
OMIM:611126 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Malformation... |
OMIM:249000 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital he... |
OMIM:266920 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia |
ORPHA:3002 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Neutropenia, Hyperammonemia, Irritability, Dysphagia |
OMIM:618253 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypospadias, Cryptorchidism, Intestinal polyp, Decreased circulating IgA level |
ORPHA:457485 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal left ventricular funct... |
OMIM:301056 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hennekam Syndrome |
|
Malabsorption, Ectopic kidney, Splenomegaly, Pyloric stenosis, Pulmonary lymphangiectasia, Horses... |
ORPHA:2136 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Panhypogammaglobulinemia, Cirrhosis, Chronic he... |
OMIM:615207 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:567546 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymph... |
ORPHA:139402 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Skin rash |
OMIM:601979 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumon... |
OMIM:616651 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Abnormality of complement system, Congestive heart fa... |
ORPHA:2348 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Splenomegaly, Congestive heart failure, Autoimmun... |
ORPHA:3386 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyop... |
OMIM:614702 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev... |
ORPHA:90791 |
Formiminoglutamic Aciduria |
|
Abnormal circulating enzyme concentration or activity, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Decreased circulating... |
OMIM:607143 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia... |
OMIM:235510 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:619278 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Hep... |
ORPHA:85408 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Rheumatoid Arthritis |
|
Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi... |
OMIM:180300 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura |
OMIM:620296 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... |
ORPHA:167635 |
Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemia, Prominent U wave, A... |
ORPHA:358 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia |
OMIM:618186 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Cardiomegaly, Ventricular tachycardia, Atrioventricular bloc... |
OMIM:601005 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Autoimmunity, Myocardia... |
ORPHA:221 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormalit... |
OMIM:256700 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Failure to thrive in infancy, Autoimmunity, Cholangitis, Portal hypertension, Hyper... |
ORPHA:228426 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Autoimmunit... |
ORPHA:809 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... |
ORPHA:90340 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, High nonceruloplasmin-bound serum copper... |
ORPHA:457351 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... |
OMIM:612561 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:263455 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Inflammation of the large intestine... |
ORPHA:26790 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni... |
ORPHA:935 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
Vici Syndrome |
|
Decreased circulating IgG level, Ureteral atresia, Cardiomyopathy, Renal tubular acidosis, High p... |
ORPHA:1493 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Autoim... |
ORPHA:93672 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hyperhomocystinemia, H... |
ORPHA:542643 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Hyperactivity, Aplastic anemia, Hypocholesterolemia |
OMIM:223370 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... |
OMIM:607115 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Cherry red spot of the macula |
OMIM:228000 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic syst... |
ORPHA:464329 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of ... |
OMIM:612284 |
Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Patent ductus arteriosus... |
OMIM:269860 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Steatorrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytope... |
OMIM:617941 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... |
ORPHA:1451 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Hepatic fibros... |
OMIM:614091 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hepatic fibrosis, Gastroesophageal reflux, Intrahepatic bile duct ... |
OMIM:619534 |
Cowden Syndrome 1 |
|
Colonic diverticula, Thyroiditis, Decreased circulating antibody level, Hamartomatous polyposis, ... |
OMIM:158350 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myoca... |
ORPHA:681 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypertension, Nephrotic syndro... |
ORPHA:110 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Hypertension, Cholestatic liver d... |
OMIM:270400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna... |
ORPHA:365 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Pancreatic steatosis, Throm... |
OMIM:617052 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... |
ORPHA:650 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T ... |
ORPHA:3132 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Xfe Progeroid Syndrome |
|
Hypertension, Ascites, Hypoalbuminemia |
OMIM:610965 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... |
OMIM:616299 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... |
OMIM:232220 |
Donohue Syndrome |
|
Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ... |
ORPHA:97282 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Bradycardia, Ascites, Thrombocytopenia |
OMIM:617397 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... |
OMIM:607426 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Autoimmunity, Eczema, Mediastinal lymphadenopathy, Autoimmune antibody p... |
ORPHA:79128 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac... |
ORPHA:20 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th... |
ORPHA:33276 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... |
ORPHA:379 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Antinuclear antibody po... |
OMIM:613471 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia |
OMIM:277480 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, ... |
ORPHA:355 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... |
ORPHA:2785 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Mild proteinuria, ... |
OMIM:619147 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Pulmonary embolism... |
ORPHA:79282 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tubulointerstitial nephriti... |
ORPHA:90068 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Nephroblastoma |
ORPHA:654 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Elevated circulating a... |
OMIM:276700 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... |
ORPHA:3260 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Anal stenosis, Sinusitis, Dysgammaglobu... |
OMIM:251260 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Congestive heart failure, Leukopenia, Neutropenia, Hepatic steatosis, Thro... |
OMIM:616271 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:231625 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... |
ORPHA:319552 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Lig4 Syndrome |
|
Pancytopenia, Telangiectasia, Acute lymphoblastic leukemia, Type II diabetes mellitus, Thrombocyt... |
OMIM:606593 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia, Increased circulating antibody level, Autoimmunity |
ORPHA:83600 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... |
ORPHA:251274 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrop... |
ORPHA:156 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Acute leukemia, Pol... |
ORPHA:647 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Impaired T cell function, Decreased testicular size |
OMIM:201100 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... |
OMIM:602668 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Normoc... |
ORPHA:91355 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Hypoalbuminemia |
OMIM:617729 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... |
ORPHA:133 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Slender build, Anemia |
ORPHA:1328 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Spleno... |
OMIM:619418 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Gastroesophageal r... |
ORPHA:2414 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611561 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia |
ORPHA:90790 |
Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... |
OMIM:263700 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl... |
ORPHA:713 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Ar... |
ORPHA:99745 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Obesity, Abnormality of the urinary system |
ORPHA:813 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... |
OMIM:614074 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... |
OMIM:232800 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ... |
ORPHA:774 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit... |
OMIM:257220 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomegaly, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611134 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... |
ORPHA:213 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Eczema, Allergic rhinitis, Patent ductus arteriosus, Decreased circulating total IgM, High palate... |
OMIM:618162 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypovolemia, Abnormal circulati... |
ORPHA:168558 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Anorexia, First degree atrioventricular block, Jaundice, Hepatitis, R... |
ORPHA:509 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia |
OMIM:230900 |
Monosomy 18Q |
|
Left-to-right shunt, Bilateral cryptorchidism, Left aortic arch with right descending aorta and r... |
ORPHA:1600 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Pa... |
ORPHA:79086 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Insulin resistance, Dilated cardiomy... |
OMIM:616541 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypovolemia, Abnormal circulati... |
ORPHA:289548 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, High, narrow palate, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ne... |
ORPHA:369837 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Palp... |
ORPHA:231580 |
Thrombocytopenia 6 |
|
Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Ascites, Thrombo... |
OMIM:608013 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... |
ORPHA:261222 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Jaundice, Thrombocytopenia, Hepatomegaly |
OMIM:251290 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Aganglionic megacolon, Abnormality of the kidney, High, narrow palate,... |
OMIM:209900 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia |
ORPHA:300605 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:881 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... |
OMIM:619708 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph... |
ORPHA:320 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure to thrive, Medu... |
OMIM:143880 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph... |
ORPHA:3299 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, Ir... |
ORPHA:1501 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Attention def... |
OMIM:619005 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary... |
ORPHA:403 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperb... |
ORPHA:163979 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
East Syndrome |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Hypoglycemia, Jaundice, Hepatitis, Hyperammonemia, Depression... |
ORPHA:90062 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Autoimmunity, Weight loss |
ORPHA:703 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... |
ORPHA:542323 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Bru... |
ORPHA:261323 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... |
ORPHA:247691 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... |
ORPHA:244242 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Ddost-Cdg |
|
Failure to thrive, Hepatic steatosis, Nephrotic range proteinuria |
ORPHA:300536 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Epistaxis, Hyperlipidemia,... |
ORPHA:79259 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Failure to thrive in infancy, Proteinuria, ... |
OMIM:219800 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... |
OMIM:301220 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... |
ORPHA:793 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Intrahepatic cholestasis, Hypercalciuria... |
OMIM:227810 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Dysphagia, Throm... |
ORPHA:261250 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis... |
OMIM:274000 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoa... |
OMIM:616026 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... |
ORPHA:276621 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria |
OMIM:251900 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Attention deficit ... |
OMIM:620185 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Abnormal... |
ORPHA:1775 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls... |
ORPHA:521219 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Myocardial infarction, Sudden cardiac de... |
ORPHA:36426 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokale... |
ORPHA:173 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Prominent veins on trunk, Polycystic ovarie... |
ORPHA:79083 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Anal fissure, Glomerulonephri... |
ORPHA:79408 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Obesity, Cachexia |
ORPHA:85293 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Thrombocytopenia, Cardiomyopathy, Dysphagia, Neonatal hypoglycemia |
ORPHA:572798 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Cleft palate, Tongue nod... |
OMIM:311200 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Neutropenia, Anemia, Dysphagia, Polydipsia, Pa... |
ORPHA:537 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613990 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome... |
ORPHA:3318 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... |
ORPHA:309031 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopa... |
OMIM:230500 |
Mednik Syndrome |
|
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Glossoptosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperaldosteronism, Pulm... |
OMIM:615474 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Dysp... |
OMIM:607625 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Hypertension, Increased circulating cortisol level, Normochromic anem... |
ORPHA:95613 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Left ventricular hypertrophy... |
OMIM:301500 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Hyperaldosteronism, Dexamethasone-... |
ORPHA:369929 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... |
ORPHA:293987 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Telangiectasia, Keratoconjunctivitis sicca, Erythroderma, ... |
OMIM:601675 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy |
OMIM:213300 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Weight loss |
ORPHA:704 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia, Prolonged neo... |
ORPHA:95716 |
Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... |
OMIM:188400 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level |
OMIM:114065 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... |
ORPHA:564 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Anorectal anomaly, Abnormal aortic arch morphology, Hypoplasia of the t... |
ORPHA:567 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Chronic decreased circulating IgG1, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:603467 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, High, narrow pal... |
OMIM:218330 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circula... |
OMIM:243800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... |
OMIM:602782 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Anemia, Abnormality of circulating enzyme level |
ORPHA:93598 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Bundle branch bl... |
ORPHA:466677 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycyt... |
OMIM:606812 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dilation of Virchow-Robin spaces, Oral-pharyngeal dy... |
OMIM:615273 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyp... |
ORPHA:83317 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations |
OMIM:188580 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... |
ORPHA:31205 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria... |
OMIM:308940 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Skin rash, Abscess, Pust... |
OMIM:612852 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... |
ORPHA:404 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, ... |
OMIM:230600 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia |
OMIM:616276 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti... |
OMIM:612387 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Melen... |
ORPHA:853 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... |
ORPHA:188 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft ... |
OMIM:263520 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Ne... |
ORPHA:97289 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Severe... |
ORPHA:99843 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Cryoglobulinemia, Abnormal renal physiology |
OMIM:123550 |
Okur-Chung Neurodevelopmental Syndrome |
|
Protruding tongue, Decreased circulating antibody level, High palate, Decreased circulating IgG l... |
OMIM:617062 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Decr... |
ORPHA:231632 |
Meckel Syndrome 14 |
|
Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hemoglobin A1... |
OMIM:269700 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... |
ORPHA:556 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Bradycardia, Hyperammonemia |
OMIM:610015 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia |
OMIM:610733 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine |
ORPHA:331 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... |
OMIM:249100 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent pneumonia, Telangiectasia, Leukopenia, Conjunctivitis, Recurre... |
OMIM:604173 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Failure to thrive, Anemia |
ORPHA:90321 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Bronchiectasis, Lymphadenopathy, Weight loss |
ORPHA:411703 |
Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia |
OMIM:255125 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... |
OMIM:616263 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Posterior uveitis, Anemia |
ORPHA:52417 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Weight loss,... |
ORPHA:29072 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... |
OMIM:105650 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb... |
ORPHA:46059 |
Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Neonatal hypo... |
OMIM:619004 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Attention... |
OMIM:227646 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Hypoplasia of the bladder, Ureteral hypop... |
ORPHA:79328 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Hypokalemia, Increased circulating ... |
OMIM:263800 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Lacunar stroke, Macro... |
OMIM:618440 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Abnormal cardiac ventricular function, Hypercalcemia, Eosinophili... |
ORPHA:797 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Bradycardia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, H... |
ORPHA:90674 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Autoi... |
ORPHA:99885 |
D-Glyceric Aciduria |
|
Tongue thrusting, Hypoglycemia, Nonketotic hyperglycinemia, Bradycardia |
OMIM:220120 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, H... |
OMIM:612780 |
Hydatidiform Mole |
|
Miscarriage, Anemia |
ORPHA:99927 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Aplasia of the swe... |
OMIM:612132 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insul... |
ORPHA:769 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension |
ORPHA:330021 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Ogden Syndrome |
|
Premature atrial contractions, Maternal diabetes, Cardiomegaly, Abnormal repetitive mannerisms, J... |
OMIM:300855 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Intestinal bleeding, Bone marrow hypocellularity, Gastrointestina... |
OMIM:612199 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty a... |
OMIM:610768 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... |
ORPHA:71493 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Pulmonic stenosis, Pulmona... |
OMIM:616028 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia |
OMIM:613239 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
Central Diabetes Insipidus |
|
Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Weig... |
OMIM:608710 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... |
OMIM:207900 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Arterial rupture, Thrombocytopenia |
OMIM:612394 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Trisomy 18 |
|
Abnormality of the upper urinary tract, Hydronephrosis, Cachexia |
ORPHA:3380 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Microscopic hematuria, Chronic kidney disease, Abnormal urine p... |
ORPHA:411634 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Schwartz-Jampel Syndrome |
|
Cachexia, Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Decrease... |
ORPHA:800 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria |
ORPHA:86818 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hepatic failure, Cholelithiasis, Eczema |
OMIM:177000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Depression, Cardiomyopathy, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... |
ORPHA:1655 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Depression, Anemia, Self-injurious behavior, Hypokalemia, Hyperaldos... |
ORPHA:534 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Bradycardia, Impaired glucose tolerance, Atrioventricular block |
OMIM:614407 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... |
ORPHA:2796 |
Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... |
ORPHA:550 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Increased circulating antibody level, Dysphagia |
OMIM:606002 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Vesicoureteral reflux, Weight loss |
ORPHA:3208 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Rhinitis, Mucopolysacchariduria |
ORPHA:93474 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Weight loss |
ORPHA:142 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Hypertension, Hypokalemia, Glucose intolerance, Emotional lability |
OMIM:219090 |
Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:1333 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... |
OMIM:170390 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia |
OMIM:620351 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... |
ORPHA:228308 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Inflammation of the large inte... |
ORPHA:70591 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hepatocellu... |
OMIM:232200 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss |
ORPHA:1332 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic m... |
OMIM:301040 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth... |
OMIM:617321 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Failure to thrive, Small for gestational age, Cholestasis |
OMIM:609015 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... |
ORPHA:157 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr... |
OMIM:192315 |
Cysticercosis |
|
Iridocyclitis, Stroke, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Decreased circulating cortisol level, Hyperkalemia, Hypovolemia, Hypochlorem... |
ORPHA:90794 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Hemoglobinuria |
OMIM:266120 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... |
ORPHA:354 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Oroticaciduria, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Fail... |
OMIM:616457 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia |
OMIM:301072 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Attention deficit hyperactivity... |
ORPHA:235 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Pericarditis, Eosinophilia, Weight loss |
ORPHA:75566 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Bilateral sup... |
OMIM:306955 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, ... |
ORPHA:744 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Proteinuria, Elevated circulating g... |
ORPHA:79318 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Macroglossia, Recurrent pancreatitis, High ... |
OMIM:618268 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Left axis deviation, Congestive heart... |
OMIM:261740 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp... |
ORPHA:707 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Aminoaciduria, Albuminuria, Prolonged... |
OMIM:214100 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Paten... |
OMIM:115470 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pelvic mass, Jaundice, Weight loss, Ascites, Pancreatitis, Anemia |
ORPHA:370348 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria, Splenomegaly, Severe f... |
OMIM:133540 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Pallor, Anemia |
ORPHA:667 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... |
ORPHA:96253 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:607364 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Gastric ulcer, Decreased circ... |
OMIM:604928 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldostero... |
ORPHA:508 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... |
OMIM:607944 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Myoglobinuria, Hepatic steatosis, Red-brown urine |
ORPHA:228305 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia, Bradycardia, Dysphagia, Neonatal hypoglycemia |
OMIM:617248 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis, Left ... |
ORPHA:324 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Thymic hormone decreased, Micropeni... |
OMIM:216400 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Intracranial hemorrhage, Hypertension, Hypokalemia, Decreas... |
ORPHA:90795 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Hydronephrosis |
ORPHA:100078 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Failure to thrive, Hepatic steatosis |
ORPHA:71212 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100075 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Neutropenia, Dysphagia, Lymphopenia, Anemia |
OMIM:618460 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged ne... |
ORPHA:90673 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:97287 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Calcification of the aorta, Mitral stenosis |
OMIM:231005 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis |
OMIM:300519 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss |
ORPHA:764 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Holoprosencephaly |
|
Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the spleen, Abnorm... |
ORPHA:2162 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Chroni... |
ORPHA:51 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis, Abnormal biliar... |
ORPHA:438274 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Dysphagia, Cholelithias... |
OMIM:160900 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating... |
ORPHA:89938 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Cholelithiasi... |
OMIM:614886 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Increased circulating corticosterone level, Hypertension, H... |
ORPHA:90793 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia |
ORPHA:892 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Unilateral renal agenesis, Bilateral renal dysplas... |
ORPHA:500150 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Stroke-like episode, Hematochezia, Cholestat... |
ORPHA:79095 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Cirrhosis,... |
OMIM:305000 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration, Anemia |
ORPHA:79404 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Hypertension, Ele... |
OMIM:201750 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Weight loss |
ORPHA:767 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy... |
ORPHA:35687 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Weight loss |
ORPHA:312 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Glossopharyngeal Neuralgia |
|
Autoimmunity, Weight loss |
ORPHA:221098 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Marfan Syndrome |
|
Arthralgia/arthritis, Slender build, Cachexia |
ORPHA:558 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation |
OMIM:612918 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Hypokalemia, Increased circulating cortisol level, Type II... |
ORPHA:199244 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... |
OMIM:601678 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Autoimmune antibody positivity, Small for gestational age, Weight loss |
ORPHA:424 |
Jacobsen Syndrome |
|
Annular pancreas, Thrombocytopenia |
OMIM:147791 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Stickler Syndrome |
|
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build |
ORPHA:828 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Urinary retention |
ORPHA:2126 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Ann... |
ORPHA:2308 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Mild proteinuria |
OMIM:619685 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormality of the live... |
ORPHA:84 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Red-brown urine, Red urine, ... |
ORPHA:95159 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Macrovesi... |
OMIM:619127 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft palate, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithi... |
OMIM:301066 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypertension, Hypokalemia, Increased circulating cortisol level, Hypoglycemia |
ORPHA:786 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Micropenis, Proteinuria, Obesity |
OMIM:619471 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97278 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Neonatal hypoglycemia |
ORPHA:565624 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Autoimmune antibody positivity, Weight loss |
ORPHA:747 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Intrahepatic cholestasis, Abno... |
ORPHA:97280 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased c... |
ORPHA:99889 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Familial Gestational Hyperthyroidism |
|
Autoimmune antibody positivity, Weight loss |
ORPHA:99819 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
Fatal Familial Insomnia |
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Urinary retention, Weight loss |
OMIM:600072 |
Short Qt Syndrome 2 |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:600376 |
Mucolipidosis Type Ii |
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Splenomegaly, Hepatosplenomegaly, Weight loss, Otitis media, Left ventricular hypertrophy |
ORPHA:576 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cryptorchidism, Furrowed tongue, High palate, Cholelithiasis, Micropenis, Decreased testicular size |
OMIM:300534 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Acquired Central Diabetes Insipidus |
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Pollakisuria, Weight loss |
ORPHA:95626 |
Multiple Endocrine Neoplasia Type 2 |
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Neoplasm of the liver, Pallor |
ORPHA:653 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Hypospadias, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Pulmonary a... |
ORPHA:464738 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Abnormal circulating thyroglobulin level, Hypoglycemia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Orofaciodigital Syndrome Type 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Abnormality of ... |
ORPHA:2750 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Esophageal atresia, Cry... |
ORPHA:93271 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy... |
ORPHA:97283 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Exercise-induced myoglobinuria |
OMIM:607155 |
Hermansky-Pudlak Syndrome |
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Renal insufficiency, Neutropenia, Weight loss |
ORPHA:79430 |
Williams Syndrome |
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Hypoplasia of penis, Myocardial infarction, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Pure Mitochondrial Myopathy |
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Recurrent myoglobinuria |
ORPHA:254854 |
Roberts Syndrome |
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Thrombocytopenia |
ORPHA:3103 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Myoglobinuria, Ketonuria |
OMIM:616878 |
8P Inverted Duplication/Deletion Syndrome |
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High, narrow palate, Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the... |
ORPHA:96092 |
Frontometaphyseal Dysplasia 2 |
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Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Ketamine-Induced Biliary Dilatation |
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Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Esophageal Atresia |
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Pallor |
ORPHA:1199 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Myoglobinuria |
ORPHA:206549 |
Pheochromocytoma |
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Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
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Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Wei... |
ORPHA:143 |
8P23.1 Microdeletion Syndrome |
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Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Gastroesophageal ... |
OMIM:619480 |
Acrodermatitis Enteropathica |
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Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
Malignant Atrophic Papulosis |
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Peritonitis, Arteritis, Abnormality of the lower urinary tract, Weight loss |
ORPHA:679 |
African Trypanosomiasis |
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Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Splenomegaly, J... |
ORPHA:3385 |
Trisomy 8P |
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Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Heart murmur, Cleft palate, Nephro... |
ORPHA:264450 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pne... |
ORPHA:95455 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:187300 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Familial Colorectal Cancer Type X |
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Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Weight loss, Hepatocellular ... |
ORPHA:440437 |
Tsh-Secreting Pituitary Adenoma |
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Pallor |
ORPHA:91347 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Aymé-Gripp Syndrome |
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Pericarditis, Proteinuria |
ORPHA:1272 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Short Syndrome |
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Weight loss |
ORPHA:3163 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Patent ductus arteriosus, Cleft palate, Hydronephrosis, Cardiomyo... |
ORPHA:480880 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Thrombocytopenia, Dysphagia |
ORPHA:666 |
Distal Duplication 5Q |
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Cryptorchidism, Eczema, Hypospadias, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Intestinal malrotation, Exocrine pancreatic insufficiency, Patent ductus ar... |
ORPHA:2255 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Lynch Syndrome |
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Neoplasm of the pancreas, Hepatocellular carcinoma, Pancreatic adenocarcinoma, Weight loss |
ORPHA:144 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Bradycardia |
OMIM:608800 |
Proximal Spinal Muscular Atrophy |
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Bradycardia, Dysphagia |
ORPHA:70 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
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Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Hydronephrosis, Moderate albuminuria, Periodontitis, Obesity |
OMIM:619269 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, ... |
OMIM:163950 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction |
OMIM:213700 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili... |
ORPHA:2152 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Cleft palate, Urinary retention, Bradycardia, Cholelithiasis, Annul... |
ORPHA:97297 |
Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Arthr... |
ORPHA:2388 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss |
ORPHA:411602 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Bronchiectasis, Weight loss, Hematuria |
ORPHA:60025 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, Bronchiectasis, Weight loss, Hem... |
ORPHA:99921 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss, Esophagitis |
ORPHA:913 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... |
ORPHA:273 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Jaundice, Moderate albuminuria, Obesity |
OMIM:614231 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353281 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Insulinoma, Nephrolithiasis, Thymoma, Weight loss, Hypercalciuria |
ORPHA:652 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Premature coronary artery atherosclerosis, Precocious atherosclerosis, Prolonged ... |
ORPHA:909 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Aspiration pneumonia, Weight loss |
ORPHA:2020 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Abnormal fear-in... |
ORPHA:353277 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Osteoarthritis, Weight loss |
ORPHA:740 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Cystocele, Renovascular hypertension, Hype... |
ORPHA:286 |